Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25802
Gene name	Leiomodin 1
Gene symbol	LMOD1
Synonyms (NCBI Gene)	1D64kDD1MMIHS3SM-LMODSMLMOD
Chromosome	1
Chromosome location	1q32.1
Summary	The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression o

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SNP ID	Visualize variation	Clinical significance	Consequence
rs777696417	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant

120

Show/Hide all (120)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018126	hsa-miR-335-5p	Microarray	18185580
MIRT1111967	hsa-miR-1253	CLIP-seq
MIRT1111968	hsa-miR-1271	CLIP-seq
MIRT1111969	hsa-miR-1291	CLIP-seq
MIRT1111970	hsa-miR-1293	CLIP-seq
MIRT1111971	hsa-miR-134	CLIP-seq
MIRT1111972	hsa-miR-1343	CLIP-seq
MIRT1111973	hsa-miR-182	CLIP-seq
MIRT1111974	hsa-miR-2861	CLIP-seq
MIRT1111975	hsa-miR-3118	CLIP-seq
MIRT1111976	hsa-miR-3120-5p	CLIP-seq
MIRT1111977	hsa-miR-3140-5p	CLIP-seq
MIRT1111978	hsa-miR-3156-3p	CLIP-seq
MIRT1111979	hsa-miR-3199	CLIP-seq
MIRT1111980	hsa-miR-342-5p	CLIP-seq
MIRT1111981	hsa-miR-346	CLIP-seq
MIRT1111982	hsa-miR-3616-3p	CLIP-seq
MIRT1111983	hsa-miR-3660	CLIP-seq
MIRT1111984	hsa-miR-3667-3p	CLIP-seq
MIRT1111985	hsa-miR-3690	CLIP-seq
MIRT1111986	hsa-miR-4257	CLIP-seq
MIRT1111987	hsa-miR-4264	CLIP-seq
MIRT1111988	hsa-miR-4267	CLIP-seq
MIRT1111989	hsa-miR-4268	CLIP-seq
MIRT1111990	hsa-miR-4288	CLIP-seq
MIRT1111991	hsa-miR-4297	CLIP-seq
MIRT1111992	hsa-miR-4301	CLIP-seq
MIRT1111993	hsa-miR-4308	CLIP-seq
MIRT1111994	hsa-miR-4417	CLIP-seq
MIRT1111995	hsa-miR-4434	CLIP-seq
MIRT1111996	hsa-miR-4437	CLIP-seq
MIRT1111997	hsa-miR-4446-3p	CLIP-seq
MIRT1111998	hsa-miR-4483	CLIP-seq
MIRT1111999	hsa-miR-4513	CLIP-seq
MIRT1112000	hsa-miR-4516	CLIP-seq
MIRT1112001	hsa-miR-4520a-3p	CLIP-seq
MIRT1112002	hsa-miR-4526	CLIP-seq
MIRT1112003	hsa-miR-4531	CLIP-seq
MIRT1112004	hsa-miR-4632	CLIP-seq
MIRT1112005	hsa-miR-4638-3p	CLIP-seq
MIRT1112006	hsa-miR-4642	CLIP-seq
MIRT1112007	hsa-miR-4645-3p	CLIP-seq
MIRT1112008	hsa-miR-4651	CLIP-seq
MIRT1112009	hsa-miR-4656	CLIP-seq
MIRT1112010	hsa-miR-4664-5p	CLIP-seq
MIRT1112011	hsa-miR-4674	CLIP-seq
MIRT1112012	hsa-miR-4721	CLIP-seq
MIRT1112013	hsa-miR-4740-5p	CLIP-seq
MIRT1112014	hsa-miR-4742-5p	CLIP-seq
MIRT1112015	hsa-miR-4763-5p	CLIP-seq
MIRT1112016	hsa-miR-4797-3p	CLIP-seq
MIRT1112017	hsa-miR-483-3p	CLIP-seq
MIRT1112018	hsa-miR-542-3p	CLIP-seq
MIRT1112019	hsa-miR-608	CLIP-seq
MIRT1112020	hsa-miR-626	CLIP-seq
MIRT1112021	hsa-miR-632	CLIP-seq
MIRT1112022	hsa-miR-654-3p	CLIP-seq
MIRT1112023	hsa-miR-942	CLIP-seq
MIRT1112024	hsa-miR-96	CLIP-seq
MIRT2031255	hsa-miR-1238	CLIP-seq
MIRT2031256	hsa-miR-1260	CLIP-seq
MIRT2031257	hsa-miR-1260b	CLIP-seq
MIRT1111972	hsa-miR-1343	CLIP-seq
MIRT2031258	hsa-miR-188-3p	CLIP-seq
MIRT1111974	hsa-miR-2861	CLIP-seq
MIRT1111978	hsa-miR-3156-3p	CLIP-seq
MIRT1111984	hsa-miR-3667-3p	CLIP-seq
MIRT1111991	hsa-miR-4297	CLIP-seq
MIRT2031259	hsa-miR-4446-5p	CLIP-seq
MIRT2031260	hsa-miR-4492	CLIP-seq
MIRT2031261	hsa-miR-4498	CLIP-seq
MIRT2031262	hsa-miR-4505	CLIP-seq
MIRT1112004	hsa-miR-4632	CLIP-seq
MIRT2031263	hsa-miR-4691-5p	CLIP-seq
MIRT2031264	hsa-miR-4727-5p	CLIP-seq
MIRT2031265	hsa-miR-4731-5p	CLIP-seq
MIRT2031266	hsa-miR-4749-3p	CLIP-seq
MIRT1112015	hsa-miR-4763-5p	CLIP-seq
MIRT2031267	hsa-miR-4769-3p	CLIP-seq
MIRT2031268	hsa-miR-4797-5p	CLIP-seq
MIRT2031269	hsa-miR-759	CLIP-seq
MIRT2031270	hsa-miR-762	CLIP-seq
MIRT2031256	hsa-miR-1260	CLIP-seq
MIRT2031257	hsa-miR-1260b	CLIP-seq
MIRT1111972	hsa-miR-1343	CLIP-seq
MIRT2262169	hsa-miR-1827	CLIP-seq
MIRT2031258	hsa-miR-188-3p	CLIP-seq
MIRT2262170	hsa-miR-3151	CLIP-seq
MIRT1111978	hsa-miR-3156-3p	CLIP-seq
MIRT1111982	hsa-miR-3616-3p	CLIP-seq
MIRT2031259	hsa-miR-4446-5p	CLIP-seq
MIRT1112008	hsa-miR-4651	CLIP-seq
MIRT2031264	hsa-miR-4727-5p	CLIP-seq
MIRT2031267	hsa-miR-4769-3p	CLIP-seq
MIRT2031268	hsa-miR-4797-5p	CLIP-seq
MIRT1112019	hsa-miR-608	CLIP-seq
MIRT2031269	hsa-miR-759	CLIP-seq
MIRT2031256	hsa-miR-1260	CLIP-seq
MIRT2031257	hsa-miR-1260b	CLIP-seq
MIRT2031258	hsa-miR-188-3p	CLIP-seq
MIRT1111978	hsa-miR-3156-3p	CLIP-seq
MIRT2031259	hsa-miR-4446-5p	CLIP-seq
MIRT2031264	hsa-miR-4727-5p	CLIP-seq
MIRT2031267	hsa-miR-4769-3p	CLIP-seq
MIRT2390202	hsa-miR-544	CLIP-seq
MIRT2430768	hsa-miR-15a	CLIP-seq
MIRT2430769	hsa-miR-15b	CLIP-seq
MIRT2430770	hsa-miR-16	CLIP-seq
MIRT2430771	hsa-miR-195	CLIP-seq
MIRT2430772	hsa-miR-214	CLIP-seq
MIRT2430773	hsa-miR-3120-3p	CLIP-seq
MIRT2430774	hsa-miR-3619-5p	CLIP-seq
MIRT2430775	hsa-miR-3665	CLIP-seq
MIRT2430776	hsa-miR-424	CLIP-seq
MIRT2430777	hsa-miR-4455	CLIP-seq
MIRT2430778	hsa-miR-497	CLIP-seq
MIRT2430779	hsa-miR-5096	CLIP-seq
MIRT2430780	hsa-miR-532-5p	CLIP-seq
MIRT2430781	hsa-miR-609	CLIP-seq
MIRT2430782	hsa-miR-761	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005523	Function	Tropomyosin binding	IBA
GO:0005523	Function	Tropomyosin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005865	Component	Striated muscle thin filament	IBA
GO:0005884	Component	Actin filament	ISS
GO:0006936	Process	Muscle contraction	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0016020	Component	Membrane	TAS	2026759
GO:0030016	Component	Myofibril	IBA
GO:0030016	Component	Myofibril	IDA	26370058
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030017	Component	Sarcomere	ISS
GO:0030239	Process	Myofibril assembly	IBA
GO:0030838	Process	Positive regulation of actin filament polymerization	IDA	26370058
GO:0045010	Process	Actin nucleation	IDA	26370058
GO:0051694	Process	Pointed-end actin filament capping	IEA

MIM	HGNC	e!Ensembl
602715	6647	ENSG00000163431

P29536

Protein name

Leiomodin-1 (64 kDa autoantigen 1D) (64 kDa autoantigen 1D3) (64 kDa autoantigen D1) (Leiomodin, muscle form) (Smooth muscle leiomodin) (SM-Lmod) (Thyroid-associated ophthalmopathy autoantigen)

Protein function

Required for proper contractility of visceral smooth muscle cells (PubMed:28292896). Mediates nucleation of actin filaments.

PDB

4Z79 , 4Z8G , 4Z94

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03250	Tropomodulin	6 → 121	Tropomodulin	Family
PF02205	WH2	571 → 600	WH2 motif	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in lung vascular smooth muscle (at protein level) (PubMed:27144530). Detected in thyroid and extraocular smooth muscle, but not skeletal muscle (PubMed:2026759). Detected in heart, aorta, skeletal muscle, colon, urinary bladde

Sequence

MSRVAKYRRQVSEDPDIDSLLETLSPEEMEELEKELDVVDPDGSVPVGLRQRNQTEKQST
GVYNREAMLNFCEKETKKLMQREMSMDESKQVETKTDAKNGEERGRDASKKALGPRRDSD
LGKEPKRGGLKKSFSRDRDEAGGKSGEKPKEEKIIRGIDKGRVRAAVDKKEAGKDGRGEE
RAVATKKEEEKKGSDRNTGLSRDKDKKREEMKEVAKKEDDEKVKGERRNTDTRKEGEKMK
RAGGNTDMKKEDEKVKRGTGNTDTKKDDEKVKKNEPLHEKEAKDDSKTKTPEKQTPSGPT
KPSEGPAKVEEEAAPSIFDEPLERVKNNDPEMTEVNVNNSDCITNEILVRFTEALEFNTV
VKLFALANTRADDHVAFAIAIMLKANKTITSLNLDSNHITGKGILAIFRALLQNNTLTEL
RFHNQRHICGGKTEMEIAKLLKENTTLLKLGYHFELAGPRMTVTNLLSRNMDKQRQKRLQ
EQRQAQEAKGEKKDLLEVPKAGAVAKGSPKPSPQPSPKPSPKNSPKKGGAPAAPPPPPPP
LAPPLIMENLKNSLSPATQRKMGDKVLPAQEKNSRDQLLAAIRSSNLKQLKKVEVPKLLQ

Sequence length

600

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Smooth Muscle Contraction

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	Pathogenic	rs1487322841, rs1196609413, rs777696417	RCV001796556 RCV001796555 RCV001461845
Thyroid cancer, nonmedullary, 1	Pathogenic	rs777696417	RCV005895420
Visceral myopathy 1	Pathogenic	rs777696417	RCV000508596

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Abdominal	Associate	34852854
Arteriosclerosis	Associate	36292702
Atherosclerosis	Associate	36292702
Colorectal Neoplasms	Associate	30786729
Coronary Artery Disease	Associate	27386823
Fanconi Anemia	Associate	23285130
Fibrous Dysplasia Polyostotic	Associate	18349068
Glomerulonephritis Membranous	Associate	37511514
Leiomyosarcoma	Associate	25896974
Leiomyosarcoma	Stimulate	28893210
Megacystis microcolon intestinal hypoperistalsis syndrome	Associate	28602422, 33031641
Muscular Diseases	Associate	29453416, 31427716
Neoplasm Metastasis	Associate	35488236
Nephrotic Syndrome	Associate	37511514
Peritonitis	Associate	35488236
Prostatic Neoplasms	Associate	34860853
Pulmonary Arterial Hypertension	Associate	27144530
Stomach Neoplasms	Associate	35488236
Thyroid Cancer Papillary	Associate	17914110
Thyroiditis	Associate	18349068

LMOD1 (leiomodin 1)